A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451115



Internal ID14951376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30223230..30230328hg38UCSC Ensembl
Innerchr16:30224230..30229328hg38UCSC Ensembl
Outerchr16:30222230..30231328hg38UCSC Ensembl
chr16:30234551..30241649hg19UCSC Ensembl
Innerchr16:30235551..30240649hg19UCSC Ensembl
Outerchr16:30233551..30242649hg19UCSC Ensembl
chr16:30142052..30149150hg18UCSC Ensembl
Innerchr16:30143052..30148150hg18UCSC Ensembl
Outerchr16:30141052..30150150hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387099
hg197099
hg187099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689955
SamplesNA19239
Known GenesLOC613037
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451115
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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